168 related articles for article (PubMed ID: 30664951)
1. Oligo-astrocytoma in LZTR1-related Noonan syndrome.
Jacquinet A; Bonnard A; Capri Y; Martin D; Sadzot B; Bianchi E; Servais L; Sacré JP; Cavé H; Verloes A
Eur J Med Genet; 2020 Jan; 63(1):103617. PubMed ID: 30664951
[TBL] [Abstract][Full Text] [Related]
2. A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.
Zhao X; Li Z; Wang L; Lan Z; Lin F; Zhang W; Su Z
BMC Endocr Disord; 2021 Jan; 21(1):2. PubMed ID: 33407364
[TBL] [Abstract][Full Text] [Related]
3. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ; van der Smagt JJ; Rosenfeld JA; Pagnamenta AT; Alswaid A; Baker EH; Blair E; Borck G; Brinkmann J; Craigen W; Dung VC; Emrick L; Everman DB; van Gassen KL; Gulsuner S; Harr MH; Jain M; Kuechler A; Leppig KA; McDonald-McGinn DM; Can NTB; Peleg A; Roeder ER; Rogers RC; Sagi-Dain L; Sapp JC; Schäffer AA; Schanze D; Stewart H; Taylor JC; Verbeek NE; Walkiewicz MA; Zackai EH; Zweier C; ; Zenker M; Lee B; Biesecker LG
Genet Med; 2018 Oct; 20(10):1175-1185. PubMed ID: 29469822
[TBL] [Abstract][Full Text] [Related]
4. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL; Aguena M; Gos M; Hung C; Pilch J; Fahiminiya S; Abramowicz A; Cristian I; Buscarilli M; Naslavsky MS; Malaquias AC; Zatz M; Bodamer O; Majewski J; Jorge AA; Pereira AC; Kim CA; Passos-Bueno MR; Bertola DR
J Med Genet; 2015 Jun; 52(6):413-21. PubMed ID: 25795793
[TBL] [Abstract][Full Text] [Related]
5. Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J; Huckstadt V; Mucciolo M; Lepri F; Novelli A; Gravina LP; Obregon MG
Am J Med Genet A; 2020 Feb; 182(2):409-414. PubMed ID: 31825158
[TBL] [Abstract][Full Text] [Related]
6. Coexistence of schwannomatosis and glioblastoma in two families.
Deiller C; Van-Gils J; Zordan C; Tinat J; Loiseau H; Fabre T; Delleci C; Cohen J; Vidaud M; Parfait B; Goizet C
Eur J Med Genet; 2019 Aug; 62(8):103680. PubMed ID: 31128261
[TBL] [Abstract][Full Text] [Related]
7. Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT; Kaisaki PJ; Bennett F; Burkitt-Wright E; Martin HC; Ferla MP; Taylor JM; Gompertz L; Lahiri N; Tatton-Brown K; Newbury-Ecob R; Henderson A; Joss S; Weber A; Carmichael J; Turnpenny PD; McKee S; Forzano F; Ashraf T; Bradbury K; Shears D; Kini U; de Burca A; ; Blair E; Taylor JC; Stewart H
Clin Genet; 2019 Jun; 95(6):693-703. PubMed ID: 30859559
[TBL] [Abstract][Full Text] [Related]
8. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
[TBL] [Abstract][Full Text] [Related]
9. LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM; Thain E; Barnett-Tapia C; Sadeghian H; Kim RH
BMC Med Genomics; 2022 Jul; 15(1):160. PubMed ID: 35840934
[TBL] [Abstract][Full Text] [Related]
10. Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants.
Perin F; Trujillo-Quintero JP; Jimenez-Jaimez J; Rodríguez-Vázquez Del Rey MDM; Monserrat L; Tercedor L
Rev Esp Cardiol (Engl Ed); 2019 Nov; 72(11):978-980. PubMed ID: 31182298
[No Abstract] [Full Text] [Related]
11.
Jenkins J; Barnes A; Birnbaum B; Papagiannis J; Thiffault I; Saunders CJ
Circ Genom Precis Med; 2020 Apr; 13(2):e002690. PubMed ID: 32004086
[No Abstract] [Full Text] [Related]
12. LZTR1: Genotype Expansion in Noonan Syndrome.
Güemes M; Martín-Rivada Á; Ortiz-Cabrera NV; Martos-Moreno GÁ; Pozo-Román J; Argente J
Horm Res Paediatr; 2019; 92(4):269-275. PubMed ID: 31533111
[TBL] [Abstract][Full Text] [Related]
13. Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M; Fidan M; Bellacchio E; Pantaleoni F; Schneider-Heieck K; Coppola S; Borck G; Salviati L; Zenker M; Cirstea IC; Tartaglia M
Hum Mol Genet; 2019 Mar; 28(6):1007-1022. PubMed ID: 30481304
[TBL] [Abstract][Full Text] [Related]
14. Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.
Nakagama Y; Takeda N; Ogawa S; Takeda H; Furutani Y; Nakanishi T; Sato T; Hirata Y; Oka A; Inuzuka R
Mol Genet Genomic Med; 2020 Mar; 8(3):e1107. PubMed ID: 31883238
[TBL] [Abstract][Full Text] [Related]
15. Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome.
Nair S; Fort JA; Yachnis AT; Williams CA
Pediatr Blood Cancer; 2015 Jun; 62(6):1084-6. PubMed ID: 25585602
[TBL] [Abstract][Full Text] [Related]
16. The Noonan Syndrome Gene
Sewduth RN; Pandolfi S; Steklov M; Sheryazdanova A; Zhao P; Criem N; Baietti MF; Lechat B; Quarck R; Impens F; Sablina AA
Circ Res; 2020 May; 126(10):1379-1393. PubMed ID: 32175818
[TBL] [Abstract][Full Text] [Related]
17. Gonadal dysfunction in a man with Noonan syndrome from the
Orsolini F; Pignata L; Baldinotti F; Romano S; Tonacchera M; Canale D
Front Endocrinol (Lausanne); 2024; 15():1354699. PubMed ID: 38689733
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
Yu QX; Zhen L; Lin XM; Wen YJ; Li DZ
Prenat Diagn; 2023 Dec; 43(13):1662-1665. PubMed ID: 37936555
[TBL] [Abstract][Full Text] [Related]
19. Pilocytic astrocytoma in a child with Noonan syndrome.
Schuettpelz LG; McDonald S; Whitesell K; Desruisseau DM; Grange DK; Gurnett CA; Wilson DB
Pediatr Blood Cancer; 2009 Dec; 53(6):1147-9. PubMed ID: 19621452
[TBL] [Abstract][Full Text] [Related]
20. Tumor development in three patients with Noonan syndrome.
Fryssira H; Leventopoulos G; Psoni S; Kitsiou-Tzeli S; Stavrianeas N; Kanavakis E
Eur J Pediatr; 2008 Sep; 167(9):1025-31. PubMed ID: 18057963
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
